Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTPRD	5789	broad.mit.edu	37	9	8633423	8633423	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:8633423G>A	ENST00000381196.4	-	11	789	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PTPRD_ENST00000360074.4_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000358503.5_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	82	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTATTCTGAGAACTGATC	0.428000										TSP Lung(15;0.13)			20	13					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256165	34256165	+	Missense_Mutation	SNP	T	T	C	rs36062910		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:34256165T>C	ENST00000379166.2	-	11	3559	c.3440A>G	c.(3439-3441)gAg>gGg	p.E1147G	KIF24_ENST00000402558.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G|KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1147					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TAGGTCTGCCTCCCTGCTGGG	0.572000													15	23					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609437	84609437	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:84609437G>T	ENST00000344803.2	+	4	4099	c.4052G>T	c.(4051-4053)aGa>aTa	p.R1351I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AACCTTTTCAGAAAATGGATG	0.443000													7	9					5.18039e-06	5.30373e-06	1	1	0
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:20156713C>A	ENST00000379607.5	-	2	247	c.44G>T	c.(43-45)gGt>gTt	p.G15V	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308000													13	2					7.03913e-09	7.3825e-09	1	1	0
ACAN	176	broad.mit.edu	37	15	89382142	89382142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382142C>A	ENST00000439576.2	+	3	693	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ACAN_ENST00000558207.1_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000561243.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	107					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTCACTGCCCAACTACCC	0.612000													34	105					2.66277e-13	2.86247e-13	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34034977	34034977	+	Missense_Mutation	SNP	G	G	A	rs143459383		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:34034977G>A	ENST00000373381.4	-	52	8304	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2712	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACCAAGGCAGCGGACT	0.502000													17	36					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855199	76855199	+	Splice_Site	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:76855199A>G	ENST00000373344.5	-	24	6001		c.e24+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTCGATTTACTTTGTATAA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	1					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135962189	135962189	+	RNA	SNP	C	C	G	rs1755630	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:135962189C>G	ENST00000411440.2	+	0	696					NR_001275.2																						CAACATGGGCCACTCGGCTGT	0.627000													3	9					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128482972	128482972	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:128482972G>A	ENST00000325888.8	+	16	2775	c.2514G>A	c.(2512-2514)gcG>gcA	p.A838A	FLNC_ENST00000346177.6_Silent_p.A838A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	838					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACA	0.592000													18	29					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs117454723	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1																						AACAGCCCTGTCCCAAGGAAG	0.507000													3	10					0	0	1	0	0
RAB23	51715	broad.mit.edu	37	6	57058690	57058690	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:57058690T>A	ENST00000317483.3	-	6	1143	c.524A>T	c.(523-525)cAa>cTa	p.Q175L	RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCTATTTGTTGTTTGAGTTT	0.318000													9	5					0	0	1	0	0
PTPRCAP	5790	broad.mit.edu	37	11	67203469	67203469	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:67203469G>A	ENST00000326294.3	-	2	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCACCATCCGCGACGTGGTC	0.657000													10	44					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563995	228563995	+	Missense_Mutation	SNP	C	C	T	rs147502239	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:228563995C>T	ENST00000258403.3	-	3	507	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	146					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGCGTGACGCTCCTGCAG	0.592000													57	86					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	7					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203630	56203630	+	Silent	SNP	G	G	A	rs76266246	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr18:56203630G>A	ENST00000361673.3	-	5	4002	c.3789C>T	c.(3787-3789)gaC>gaT	p.D1263D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1263							ATP binding|protein serine/threonine kinase activity	p.D624D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGACCACCGTCTGATGCCT	0.498000													53	65					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								8	17					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239002577	239002577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:239002577A>G	ENST00000254663.6	+	9	1163	c.1021A>G	c.(1021-1023)Agg>Ggg	p.R341G	SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G|SCLY_ENST00000555827.1_Missense_Mutation_p.R333G	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	333					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTGGAAGAGAGGCTGGAAGT	0.672000													11	10					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172472415	172472415	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:172472415A>T	ENST00000417960.1	+	3	572	c.95A>T	c.(94-96)gAa>gTa	p.E32V	ECT2_ENST00000441497.2_Missense_Mutation_p.E32V|ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000392692.3_Missense_Mutation_p.E32V	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTTCCAAGGAAAACTTACTT	0.323000													3	11					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173247	161173247	+	Silent	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:161173247C>T	ENST00000308192.9	+	18	2289	c.2226C>T	c.(2224-2226)acC>acT	p.T742T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	742	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAATCCACCGAACTCTGTG	0.488000													21	28					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732945	61732945	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:61732945C>G	ENST00000273550.7	-	2	391	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P	FTH1_ENST00000532601.1_5'UTR|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	53	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AAGTATTTGGCAAAGTTCTTC	0.458000													29	29					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84913701	84913701	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:84913701G>C	ENST00000403245.3	-	7	799	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	229					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATATATACCTGTTTGGGCACA	0.343000													3	16					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35685321	35685321	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:35685321C>A	ENST00000378292.3	-	5	1710	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TPM2_ENST00000360958.2_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L|TPM2_ENST00000378300.5_Missense_Mutation_p.V170L	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	170					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCAGGATCACCAGCTTCCTG	0.627000													11	26					5.50884e-06	5.50884e-06	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518709	108518709	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr13:108518709T>C	ENST00000375915.2	-	1	374	c.236A>G	c.(235-237)cAg>cGg	p.Q79R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	79	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgctgccgctg	0.677000													21	29					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523540	38523540	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:38523540C>G	ENST00000263409.4	-	5	704	c.542G>C	c.(541-543)aGt>aCt	p.S181T	LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	181					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.S181T(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAGCTCCATACTCTCTTTACG	0.343000			T	PLAG1	salivary adenoma								15	31					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26437420	26437420	+	Silent	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:26437420C>T	ENST00000380649.3	-	9	939	c.810G>A	c.(808-810)gcG>gcA	p.A270A	HADHA_ENST00000457468.2_Silent_p.A183A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	270					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCATGGCATACGCTGTCAATT	0.338000													5	10					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	rs148336562	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547000													20	180					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904857	55904857	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:55904857A>G	ENST00000301529.1	-	1	337	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCCAGCATCATTACCTCCGA	0.478000													11	79					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775986	2775986	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr20:2775986G>A	ENST00000380605.2	-	12	1861	c.1797C>T	c.(1795-1797)caC>caT	p.H599H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	599					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATTCATTCTCGTGAGGGAACT	0.567000													19	20					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669148	80669148	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:80669148G>C	ENST00000557010.1	-	4	1091	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	236					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAATTTTCTGTCTCTGCACA	0.507000													23	24					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	rs1061517		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776000									Familial Paragangliomas				10	16					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924865	2924865	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:2924865A>G	ENST00000397461.1	+	8	1073	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	230	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAGAAGTGCAGTTCCCAGAA	0.408000													13	17					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076966	92076966	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:92076966G>A	ENST00000256343.3	-	21	2612	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	819					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACCATTGTCGTAACAAAGCA	0.373000													7	25					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048910	35048910	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:35048910C>T	ENST00000360359.3	+	17	2822	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	895						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACCCTCCCGAGCGGAG	0.657000													11	26					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89382124	89382124	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382124C>G	ENST00000439576.2	+	3	675	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000561243.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	101					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGCCTATCAGGACAAGGT	0.617000													30	103					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98497374	98497374	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:98497374G>T	ENST00000359863.4	+	10	993	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	262					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCATTCAGGTGTCTGCACA	0.438000													11	23					6.81908e-15	7.51847e-15	1	1	0
FERMT2	10979	broad.mit.edu	37	14	53385874	53385874	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:53385874A>G	ENST00000395631.2	-	3	574	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L|FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L			Q96AC1	FERM2_HUMAN	fermitin family member 2	120					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACAGCTTTGAAGACTCTATCA	0.393000													25	31					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:117768538C>T	ENST00000317775.6	-	2	1022	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_ENST00000338101.4_Missense_Mutation_p.G113S|NOS1_ENST00000344089.3_Missense_Mutation_p.G113S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632000													15	24					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366912	248366912	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248366912delC	ENST00000456743.1	+	1	581	c.543delC	c.(541-543)ttcfs	p.F181fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGTGACTTCCCCTCCCTAC	0.423													42	144	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													2	4	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	RNA	INS	-	-	TTT	rs145057012		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr4:105918246_105918247insTTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317													2	4	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													7	147	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570347	22570349	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:22570347_22570349delGGC	ENST00000510882.2	+	1	553_555	c.543_545delGGC	c.(541-546)agggcg>agg	p.A188del	HDGFL1_ENST00000230012.3_In_Frame_Del_p.A188del			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					aagcggagagggcggcggcggcg	0.768													3	5	---	---	---	---					
AEBP2	121536	broad.mit.edu	37	12	19592913	19592913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:19592913delG	ENST00000266508.9	+	1	281	c.280delG	c.(280-282)gggfs	p.G94fs	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000398864.3_Frame_Shift_Del_p.G94fs	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	94	Glu-rich.|Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGCCAGGCCGGggaggacga	0.741													2	4	---	---	---	---					
CLCN7	1186	broad.mit.edu	37	16	1506159	1506159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr16:1506159delC	ENST00000382745.4	-	10	1476	c.871delG	c.(871-873)gcafs	p.A291fs	CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	291						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCCCTGCGGAGACGAAG	0.652													2	4	---	---	---	---					
